Ebba Lohmann

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 58 publications

Genetic assessment of consecutively recruited dystonia cases from a single center.

Genetic assessment of consecutively recruited dystonia cases from a single center.

Journal: Neurogenetics

Published: January 17, 2026

FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.

FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.

Journal: Movement disorders clinical practice

Published: April 13, 2025

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Journal: Annals of clinical and translational neurology

Published: March 26, 2025

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: December 16, 2024

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 23, 2024

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

Journal: Alzheimer's research & therapy

Published: October 27, 2023

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 02, 2023

Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.

Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.

Journal: Movement disorders clinical practice

Published: June 19, 2023

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Journal: Journal of medical genetics

Published: December 08, 2022

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.

Journal: Neurobiology of aging

Published: October 23, 2022

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Journal: BMC neurology

Published: November 17, 2021

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

Journal: Neurology

Published: May 31, 2021

Showing 1-12 of 58

Last Updated: 09/26/2026